title: Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
authors.affiliation: Institute of Biology and Genetics, University of Genoa, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: M
authors.initials: M
authors.lastname: Montera
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: A
authors.initials: A
authors.lastname: Trojani
authors.forename: S
authors.initials: S
authors.lastname: Daniele
authors.forename: F
authors.initials: F
authors.lastname: Ajmar
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008025:Ligases; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology
chemical_list: D018388:Codon, Terminator; D011506:Proteins; D025521:Tumor Suppressor Proteins; D004247:DNA; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human